Canonical Allele Identifier: CA12186516
Gene: POLR1HASP HGNC NCBI

Linked Data

dbSNP Id: rs4959039
gnomAD v2: 6-29957069-A-G
gnomAD v3: 6-29989292-A-G
gnomAD v4: 6-29989292-A-G
MyVariant Identifiers: chr6:g.29957069A>G (hg19) chr6:g.29989292A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.29989292A>G , CM000668.2:g.29989292A>G GRCh38
NC_000006.11:g.29957069A>G , CM000668.1:g.29957069A>G GRCh37
NC_000006.10:g.30065048A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000688495.1:n.361-11897T>C
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